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ONTOLOGY REPORT - ANNOTATIONS


Term:cystic fibrosis
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Accession:DOID:1485 term browser browse the term
Definition:An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Synonyms:exact_synonym: CF;   Cystic Fibrosis of Pancreas;   Fibrocystic Disease of Pancreas;   Mucoviscidosis;   Pancreas Fibrocystic Disease;   Pancreas Fibrocystic Diseases;   Pancreatic Cystic Fibrosis;   Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis;   Pulmonary Cystic Fibrosis
 narrow_synonym: Nonclassic cystic fibrosis
 related_synonym: SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
 primary_id: MESH:D003550;   RDO:0002797
 alt_id: OMIM:219700
 xref: GARD:6233;   NCI:C2975
For additional species annotation, visit the Alliance of Genome Resources.


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cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link 1 277,537,585 277,538,985 RGD:5129107
G Adrb2 adrenoceptor beta 2 JBrowse link 18 57,513,792 57,515,834 RGD:5129107
RGD:4145099
G Adrb3 adrenoceptor beta 3 JBrowse link 16 69,003,541 69,006,632 RGD:5129107
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:6767553
RGD:8695959
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring JBrowse link 9 94,228,960 94,232,001 RGD:14349050
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483578
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:5130162
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:4145455
G Ccl17 C-C motif chemokine ligand 17 JBrowse link 19 10,619,220 10,620,671 RGD:4145491
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:4143275
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:5130907
RGD:5130902
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:4145632
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:4144794
RGD:4144796
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:7248443
G Cftr CF transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:4140436
RGD:8554872
RGD:11566051
RGD:11554173
RGD:7240710
RGD:734772
RGD:4140394
RGD:4140393
RGD:4140439
RGD:4140481
RGD:4140401
RGD:4140392
RGD:4140429
RGD:4140440
RGD:4140450
RGD:4140464
RGD:4140428
RGD:4140465
RGD:4140438
RGD:4140442
RGD:4140422
RGD:4139910
RGD:4140435
G Clca1 chloride channel accessory 1 JBrowse link 2 250,897,980 250,923,711 RGD:4145657
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:704390
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:5133738
G Cxcl1 C-X-C motif chemokine ligand 1 JBrowse link 14 18,743,678 18,745,457 RGD:5135034
G Cxcl2 C-X-C motif chemokine ligand 2 JBrowse link 14 18,731,346 18,733,391 RGD:5135034
G Cxcl3 chemokine (C-X-C motif) ligand 3 JBrowse link 14 18,820,168 18,839,659 RGD:5135456
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:5135456
G Cxcr2 C-X-C motif chemokine receptor 2 JBrowse link 9 81,427,275 81,435,065 RGD:5135034
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:4145632
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:4889126
G Dctn4 dynactin subunit 4 JBrowse link 18 55,797,188 55,824,195 RGD:11554173
G Defb4 defensin beta 4 JBrowse link 16 75,634,598 75,637,789 RGD:4892267
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4145062
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903971
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12904024
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:7240710
RGD:8554872
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 8 85,059,051 85,097,471 RGD:5134682
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10401929
RGD:14700942
RGD:12798506
RGD:12792246
RGD:12792207
G Gstm3 glutathione S-transferase mu 3 JBrowse link 2 210,685,204 210,688,273 RGD:5135040
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:1331525
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792207
RGD:14700942
RGD:12792246
RGD:10401929
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link 10 31,561,838 31,590,624 RGD:5135530
G Hfe homeostatic iron regulator JBrowse link 17 43,661,276 43,669,327 RGD:14701045
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:4145410
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link 20 4,875,834 4,881,751 RGD:6767553
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:12910480
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12904899
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743589
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:4312589
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:4889105
RGD:4889130
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889551
G Il18bp interleukin 18 binding protein JBrowse link 1 167,091,521 167,095,727 RGD:4889551
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:4142849
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:4142844
RGD:4143181
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:4143181
RGD:4143175
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:5128672
RGD:4143275
G Il9 interleukin 9 JBrowse link 17 8,558,827 8,561,950 RGD:5128699
G Il9r interleukin 9 receptor JBrowse link 10 15,697,216 15,708,684 RGD:5128699
G Irf1 interferon regulatory factor 1 JBrowse link 10 39,109,530 39,116,532 RGD:5128720
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:5128819
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:6767553
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:4889443
RGD:4889447
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:4891053
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5130723
RGD:13204794
G Mpo myeloperoxidase JBrowse link 10 75,087,892 75,098,260 RGD:5130986
RGD:5130968
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:5131272
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:5131426
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming JBrowse link 1 214,725,482 214,756,653 RGD:5131191
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link 1 214,778,459 214,811,237 RGD:5131191
RGD:5131194
G Muc6 mucin 6, oligomeric mucus/gel-forming JBrowse link 1 214,608,453 214,630,524 RGD:7364748
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:6484688
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:5132865
RGD:5132627
RGD:5132868
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:4891958
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:4892049
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:5683626
G Prss1 serine protease 1 JBrowse link 4 70,776,046 70,779,249 RGD:1599967
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link 1 226,976,455 226,995,641 RGD:5135022
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5135298
RGD:5135523
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 JBrowse link 20 1,814,661 1,833,033 RGD:5144066
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:11554173
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:11554173
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:11554173
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N JBrowse link 6 128,073,344 128,080,878 RGD:5147439
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143403
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:4143381
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:4143403
G Sftpd surfactant protein D JBrowse link 16 18,753,535 18,766,100 RGD:4143502
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:4145125
RGD:8554872
RGD:7240710
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204794
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:4144105
RGD:4144179
G Tlr5 toll-like receptor 5 JBrowse link 13 101,364,784 101,385,764 RGD:5129506
RGD:5129499
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:5130208
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:4142846
RGD:6767553
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:11554173
Cystic Fibrosis, Modifier of, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a9 solute carrier family 26 member 9 JBrowse link 13 48,512,415 48,539,467 RGD:11554173
G Slc6a14 solute carrier family 6 member 14 JBrowse link X 120,624,522 120,647,964 RGD:11554173
G Slc9a3 solute carrier family 9 member A3 JBrowse link 1 31,731,652 31,777,144 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      gastrointestinal system disease 4373
        pancreas disease 1087
          cystic fibrosis 93
            Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
            Cystic Fibrosis, Modifier of, 1 3
            Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
            Lubani Al Saleh Teebi Syndrome 0
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                cystic fibrosis 93
                  Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
                  Cystic Fibrosis, Modifier of, 1 3
                  Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
                  Lubani Al Saleh Teebi Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.